Gabriela’s Story

By: Leticia, Parent of Gabriela, a 25 year old with a KMT2C genetic change

“I feel great if I can help my daughter and other people with autism.”

What is your child’s relationship like with his/her siblings?

Not so good. I have two girls and they are both in the spectrum of autism.

What does your family do for fun?

We like walking, biking, traveling, photography, beach…

Tell us about the biggest hardship your family faces.

Autism has brought us some difficult challenges.

What about your child puts a smile on your face?

When she keeps herself calm and happy.

What motivates you to participate in research?

I’d like to share and exchange information and experience. I believe people can help each other this way.

How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?

I feel great if I can help my daughter and other people with autism.

What have you learned about your child’s condition from other families?

The importance of stimulation, and that we all have our difficult days.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

I’d say stimulation from the beginning is quite important.

What is one question you wish researchers could answer about your child’s genetic change?

Is there a good and safe medicine for my daughter, based on her genetic sequence?

Is there anything else you would like to share with other families?

I’d say that autism also have a good side. Hyper-focus is a kind of a superpower.